An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy.
نویسندگان
چکیده
A 21-year-old Caucasian man presented with a complaint of nyctalopia. Visual acuity in both eyes was 20/20 and anterior segment biomicroscopy results were unremarkable. Fundoscopy revealed peripheral avascular zones, minimal peripheral retinal exudation from the retinal vessels, peripheral retinal telangiectasias and anastomosis in both eyes, and retinal vascular dragging toward the temporal periphery in both eyes. Full field electroretinography showed that rod responses were almost absent and that cone responses were reduced. Macular optical coherence tomography showed normal structure in both eyes. Vascular changes were attributed to a subclinical form of familial exudative vitreoretinopathy. This was an interesting case due to the association of familial exudative vitreoretinopathy with rod-cone dystrophy.
منابع مشابه
Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy.
PURPOSE To report a case of familial exudative vitreoretinopathy with a retinal capillary angioma and persistent macular exudation treated with photodynamic therapy. DESIGN Interventional case report. METHODS A 39-year-old woman with familial exudative vitreoretinopathy presented with an intraretinal capillary angioma temporally with persistent macular exudation despite previous vitrectomy ...
متن کاملFamilial exudative vitreoretinopathy (FEVR) associated with infantile osteoporosis: case report.
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding condition characterized by abnormal development of the retinal vasculature. The authors describe a rare case of the disease associated with severe infantile osteoporosis in a young female patient. The patient was submitted to multiple vitreoretinal procedures in both eyes due to tractional macular detachments. The case was com...
متن کاملWhole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is heterogeneous, both clinically and genetically making difficult to establish precise genotype-phenotype correlations. In a Spanish family with autosomal recessive RP (arRP), homozygosity mapping and whole-exome sequencing led to the identi...
متن کاملGenotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic e...
متن کاملExcessive myopia and anisometropia associated with familial exudative vitreoretinopathy.
BACKGROUND To describe associations between familial exudative vitreoretinopathy (FEVR) and refractive status. METHODS We conducted retrospective studies of patients with clinical diagnoses of familial exudative vitreoretinopathy from June 1986 through September 2000. All patients had cycloplegic refraction, visual acuity with correction, and underwent fundus examination. Ocular history since...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Arquivos brasileiros de oftalmologia
دوره 77 5 شماره
صفحات -
تاریخ انتشار 2014